Aggressive periodontitis and NOD2 variants
Aggressive periodontitis and NOD2 variants
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DOI：
10.1038/s10038-020-0777-z
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发表时间：
2020-05-19
影响因子：
3.5
通讯作者：
Kurihara, Hidemi
中科院分区：
文献类型：
--
作者：
Mizuno, Noriyoshi;Kume, Kodai;Kurihara, Hidemi
侵袭性牙周炎（AgP）发生在早期，导致牙周组织迅速破坏。核苷酸结合寡聚结构域蛋白2 （NOD2）编码一种具有两个半胱天冬酶募集结构域和11个富含亮氨酸重复序列的蛋白。该蛋白主要在外周血白细胞中表达，参与免疫应答。NOD2变异与克罗恩病易感性增加有关，最近，NOD2被报道为AgP的致病基因。本研究旨在确定AgP队列中潜在的NOD2变异（总共101例患者：37例有阳性家族史的患者和64例散发患者）。在家族性组中，来自两个家族的6例患者报告了杂合错义变异（c.C931T, p.R311W）。散发性组中有4例患者有杂合错义变异（c.C1411T, p.R471C），与疾病无关联报道。总体而言，在10%的AgP队列中发现了两种NOD2变体。这些变异不同于克罗恩病中报道的主要变异。需要研究更多的病例来阐明NOD2变异在AgP病理中的作用。
Aggressive periodontitis (AgP) occurs at an early age and causes rapid periodontal tissue destruction. Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) encodes a protein with two caspase recruitment domains and eleven leucine-rich repeats. This protein is expressed mainly in peripheral blood leukocytes and is involved in immune response. NOD2 variants have been associated with increased susceptibility to Crohn's disease, and recently, NOD2 was reported as a causative gene in AgP. The present study aimed to identify potential NOD2 variants in an AgP cohort (a total of 101 patiens: 37 patients with positive family histories and 64 sporadic patients). In the familial group, six patients from two families had a reported heterozygous missense variant (c.C931T, p.R311W). Four patients in the sporadic group had a heterozygous missense variant (c.C1411T, p.R471C), with no reported association to the disease. Overall, two NOD2 variants, were identified in 10% of our AgP cohort. These variants were different from the major variants reported in Crohn's disease. More cases need to be investigated to elucidate the role of NOD2 variants in AgP pathology.